P4HB gene related symptoms and diseases

All the information presented here about the P4HB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to P4HB gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Abnormality of the voice Very Common - Between 80% and 100% cases
Microdontia Very Common - Between 80% and 100% cases
Abnormality of the ribs Very Common - Between 80% and 100% cases
Blue sclerae Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with P4HB gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal form of the vertebral bodies
  • Abnormality of the metaphysis
  • Bowing of the long bones
  • Hydrops fetalis
  • Wormian bones
  • Abnormality of dental enamel
  • Increased susceptibility to fractures
  • High pitched voice

And 40 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to P4HB gene

Here you will find a list of rare diseases related to the P4HB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COLE-CARPENTER SYNDROME


Alternate names

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome, bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Description

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

Most common symptoms of COLE-CARPENTER SYNDROME

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


More info about COLE-CARPENTER SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for P4HB gene

Osteogenesis Imperfecta and Genetic Bone Disorders Panel Panel

United States.

By Collagen Diagnostic Laboratory University of Washington Osteogenesis Imperfecta and Genetic Bone Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC TNFRSF11B WNT1 MBTPS2 SERPINH1 XYLT2 NBAS IFITM5

More info about this panel

Osteogenesis Imperfecta & Low Bone Mass Disorders Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Osteogenesis Imperfecta & Low Bone Mass Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC WNT1 CASR SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

Cole-Carpenter syndrome type 1 (sequence analysis of P4HB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the P4HB gene.

More info about this panel

Cole-Carpenter syndrome type 1 (sequence analysis of P4HB gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the P4HB gene.

More info about this panel

Hydrocephalus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hydrocephalus Sequencing Panel with CNV Detection that also includes the following genes: ZIC3 HDAC6 CCND2 CRB2 CCDC88C FLVCR2 WDR81 DNAI1 EML1 AKT3

More info about this panel

Cole-Carpenter syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cole-Carpenter syndrome Comprehensive panel that also includes the following genes: SEC24D P4HB

More info about this panel

Cole-Carpenter syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cole-Carpenter syndrome Deletion / Duplication panel that also includes the following genes: SEC24D P4HB

More info about this panel

Cole-Carpenter syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Cole-Carpenter syndrome NGS panel that also includes the following genes: SEC24D P4HB

More info about this panel

Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

Osteogenesis imperfecta Comprehensive panel - Dominant Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Comprehensive panel - Dominant that also includes the following genes: IFITM5 COL1A2 ANO5 ALPL P4HB PLS3

More info about this panel

Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

Osteogenesis imperfecta Deletion / Duplication panel - Dominant Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta Deletion / Duplication panel - Dominant that also includes the following genes: IFITM5 COL1A2 ANO5 ALPL P4HB PLS3

More info about this panel

Osteogenesis imperfecta NGS panel - Dominant Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Dominant that also includes the following genes: IFITM5 COL1A2 ANO5 ALPL P4HB PLS3

More info about this panel

Osteogenesis imperfecta NGS panel - Dominant & Recessive Panel

United States.

By Connective Tissue Gene Tests Osteogenesis imperfecta NGS panel - Dominant & Recessive that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1

More info about this panel

Cole-Carpenter Syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Cole-Carpenter Syndrome that also includes the following genes: SEC24D P3H1 P4HB

More info about this panel

Osteogenesis imperfecta and osteoporosis - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Osteogenesis imperfecta and osteoporosis - different panels that also includes the following genes: BMP1 SEC24D SPARC WNT1 SERPINH1 IFITM5 SP7 FKBP10 CREB3L1 P3H1

More info about this panel

OI panel 2 Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital OI panel 2 that also includes the following genes: BMP1 SEC24D SPARC WNT1 MBTPS2 SERPINH1 XYLT2 SP7 B3GALT6 FKBP10

More info about this panel

P4HB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the P4HB gene.

More info about this panel


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